Paralogue Annotation for RYR2 residue 1804

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1804
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1804

No paralogue variants have been mapped to residue 1804 for RYR2.

RYR2	ECYQYSPEFPLDILKSKTIQMLTEAVKEGS>L<HARDPVGGTTEFLFVPLIKLFYTLLIMGIF	1834
RYR1	APARLSPAIPLEALRDKALRMLGEAVRDGG>Q<HARDPVGGSVEFQFVPVLKLVSTLLVMGIF	1854
RYR3	DHQKQSPEIPLESLRTKALSMLTEAVQCSG>A<HIRDPVGGSVEFQFVPVLKLIGTLLVMGVF	1738
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1804F	c.5410C>T	Putative Benign		rs367609940	SIFT: tolerated Polyphen: benign